TAY-SACHS

DISEASE

BY: JUSTINE JOSHUA C. HALINA

 Tay-Sachs disease is a severe genetic disease of the
nervous system that is nearly always fatal, usually by
three to four years of age. It is caused by mutations in
the HEXA gene, which codes for a component of the
enzyme β-hexosaminidase A or “Hex A.”
Newborns with Tay-Sachs disease appear normal at
birth. By six months of age, parents begin to notice that
their infant is becoming less responsive to stimuli. The
affected infant soon begins to regress and shows
increasing weakness, poor head control, and inability
to crawl and sit.
History and Disease
Description
In 1881 Warren Tay, a British ophthalmologist, observed a
“cherry red spot” in the retina of a one year old child with
mental and physical retardation. Later, in 1896 Bernard Sachs,
an American neurologist, observed extreme swelling of neurons
in autopsy tissue from affected children. He also noted that the
disease seemed to run in families of Jewish origin. Both
physicians were describing the same disease, but it was not until
the 1930s that the material causing the cherry-red spot and
neuronal swelling was identified as a ganglioside lipid and the
disease could be recognized as an “inborn error of metabolism.”
Diagnosis & Treatment